Association Test Algorithm Between a Qualitative Phenotype and a Haplotype or Haplotype Set Using Simultaneous Estimation of Haplotype Frequencies, Diplotype Configurations and Diplotype-Based Penetrances
نویسندگان
چکیده
منابع مشابه
Association test algorithm between a qualitative phenotype and a haplotype or haplotype set using simultaneous estimation of haplotype frequencies, diplotype configurations and diplotype-based penetrances.
Analysis of the association between haplotypes and phenotypes is becoming increasingly important. We have devised an expectation-maximization (EM)-based algorithm to test the association between a phenotype and a haplotype or a haplotype set and to estimate diplotype-based penetrance using individual genotype and phenotype data from cohort studies and clinical trials. The algorithm estimates, i...
متن کاملSimultaneous estimation of haplotype frequencies and quantitative trait parameters: applications to the test of association between phenotype and diplotype configuration.
The analysis of the haplotype-phenotype relationship has become more and more important. We have developed an algorithm, using individual genotypes at linked loci as well as their quantitative phenotypes, to estimate the parameters of the distribution of the phenotypes for subjects with and without a particular haplotype by an expectation-maximization (EM) algorithm. We assumed that the phenoty...
متن کاملA New S-test for Haplotype Analysis: Concordance and Discordance
A new test of inheritance, S, is proposed, which uses information from affected as well as unaffected siblings in the fam­ ily. The siblings are analyzed in terms of similarities of haplotypes. The distribution of the proposed S­test is derived under the null hypothesis of random inheritance. Mean and variance are obtained for the distribution. The test is then applied to data sets publ...
متن کاملDetecting Local Haplotype Sharing and Haplotype Association
A novel haplotype association method is presented, and its power is demonstrated. Relying on a statistical model for linkage disequilibrium (LD), the method first infers ancestral haplotypes and their loadings at each marker for each individual. The loadings are then used to quantify local haplotype sharing between individuals at each marker. A statistical model was developed to link the local ...
متن کاملHaplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells.
Excision repair cross-complementation group 5 (ERCC5) gene plays an important role in nucleotide excision repair, and dysregulation of ERCC5 is associated with increased lung cancer risk. Haplotype and diplotype analyses were conducted in normal bronchial epithelial cells (NBEC) to better understand mechanisms responsible for interindividual variation in transcript abundance regulation of ERCC5...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetics
سال: 2004
ISSN: 1943-2631
DOI: 10.1534/genetics.103.024653